Variant report

Variant	rs1247596
Chromosome Location	chr4:74483969-74483970
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:74472437..74474107-chr4:74481794..74484124,2	MCF-7	breast:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1247584	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1247585	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1247586	1.00[AMR][1000 genomes]
rs1247589	1.00[AMR][1000 genomes]
rs1247590	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1247591	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1247592	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1247595	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1247597	0.85[AFR][1000 genomes]
rs1247598	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1247599	0.94[AFR][1000 genomes]
rs1247600	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1247679	0.94[AFR][1000 genomes]
rs1261933	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1528920	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1528921	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1729715	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1729716	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1745285	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1745288	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2476027	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55678226	1.00[AMR][1000 genomes]
rs6826233	1.00[AMR][1000 genomes]
rs72865466	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001725	chr4:74354050-74860924	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv530126	chr4:74376622-74843892	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv1008104	chr4:74468434-74621952	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv292546	chr4:74481983-74484018	Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:74472200-74485600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr4:74476200-74484400	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr4:74476400-74484600	Weak transcription	Fetal Intestine Large	intestine
4	chr4:74477400-74485000	Weak transcription	A549	lung
5	chr4:74478600-74485800	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr4:74479400-74485000	Weak transcription	Placenta	Placenta
7	chr4:74480200-74485000	Weak transcription	Gastric	stomach
8	chr4:74481600-74485000	Weak transcription	Fetal Kidney	kidney
9	chr4:74481600-74486000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr4:74481800-74484800	Weak transcription	Fetal Intestine Small	intestine
11	chr4:74481800-74485000	Weak transcription	Pancreas	Pancrea
12	chr4:74482000-74487000	Active TSS	Breast Myoepithelial Primary Cells	Breast
13	chr4:74483000-74484400	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr4:74483200-74484800	Weak transcription	Stomach Mucosa	stomach
15	chr4:74483200-74485000	Active TSS	Fetal Thymus	thymus
16	chr4:74483200-74485600	Weak transcription	Esophagus	oesophagus
17	chr4:74483400-74484600	Enhancers	NHEK	skin
18	chr4:74483400-74484800	Active TSS	HMEC	breast
19	chr4:74483400-74485000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr4:74483400-74485000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr4:74483400-74485000	Active TSS	Thymus	Thymus
22	chr4:74483400-74485600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr4:74483800-74484200	Enhancers	Pancreatic Islets	Pancreatic Islet
24	chr4:74483800-74484400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr4:74483800-74484600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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